1. Chaddad A, Desrosiers C, Toews M. {{Multi-scale radiomic analysis of sub-cortical regions in MRI related to autism, gender and age}}. {Sci Rep};2017 (Mar 31);7:45639.
We propose using multi-scale image textures to investigate links between neuroanatomical regions and clinical variables in MRI. Texture features are derived at multiple scales of resolution based on the Laplacian-of-Gaussian (LoG) filter. Three quantifier functions (Average, Standard Deviation and Entropy) are used to summarize texture statistics within standard, automatically segmented neuroanatomical regions. Significance tests are performed to identify regional texture differences between ASD vs. TDC and male vs. female groups, as well as correlations with age (corrected p < 0.05). The open-access brain imaging data exchange (ABIDE) brain MRI dataset is used to evaluate texture features derived from 31 brain regions from 1112 subjects including 573 typically developing control (TDC, 99 females, 474 males) and 539 Autism spectrum disorder (ASD, 65 female and 474 male) subjects. Statistically significant texture differences between ASD vs. TDC groups are identified asymmetrically in the right hippocampus, left choroid-plexus and corpus callosum (CC), and symmetrically in the cerebellar white matter. Sex-related texture differences in TDC subjects are found in primarily in the left amygdala, left cerebellar white matter, and brain stem. Correlations between age and texture in TDC subjects are found in the thalamus-proper, caudate and pallidum, most exhibiting bilateral symmetry. Lien vers le texte intégral (Open Access ou abonnement)
2. Ghasemi Firouzabadi S, Vameghi R, Kariminejad R, Darvish H, Banihashemi S, Firouzkouhi Moghaddam M, Jamali P, Farbod Mofidi Tehrani H, Dehghani H, Raeisoon MR, Narooie-Nejad M, Jamshidi J, Tafakhori A, Sadabadi S, Behjati F. {{Analysis of Copy Number Variations in Patients with Autism Using Cytogenetic and MLPA Techniques: Report of 16p13.1p13.3 and 10q26.3 Duplications}}. {Int J Mol Cell Med};2016 (Fall);5(4):236-245.
Autism is a common neuropsychiatric disorder affecting 1 in 68 children. Copy number variations (CNVs) are known to be major contributors of autism spectrum disorder (ASD). There are different whole genome or targeted techniques to identify CNVs in the patients including karyotyping, multiplex ligation-dependent probe amplification (MLPA) and array CGH. In this study, we used karyotyping and MLPA to detect CNVs in 50 Iranian patients with autism. GTG banding and 4 different MLPA kits (2 subtelomeric and 2 autism kits) were utilized. To elevate our detection rate, we selected the sporadic patients who had additional clinical features including intellectual disability, seizure, attention deficit hyperactivity disorder, and abnormal head circumference. Two out of 50 patients (4%) showed microscopic chromosome abnormalities and 5 out of 50 (10%) demonstrated copy number gains or losses using MLPA kits. Including one overlapping result between karyotype and MLPA techniques, our overall detection rate was 6 out of 50 (12%). Three out of 6 CNVs were de novo and three others were paternally inherited. Two of CNVs detected by karyotyping and MLPA tests were 16p13.1q13.3 and 10q26.3 duplications, respectively. For these two CNVs genotype and phenotype of the patients were compared with other studies. Although the pathogenicity of cytogenetic results was certain, most of MLPA results needed to be better refined using other more accurate techniques such as array CGH. Our findings suggest that it might be possible to obtain some useful information using MLPA technique but it cannot be used as a single diagnostic tool for the autism.
3. Golubchik P, Rapaport M, Weizman A. {{The effect of methylphenidate on anxiety and depression symptoms in patients with Asperger syndrome and comorbid attention deficit/hyperactivity disorder}}. {Int Clin Psychopharmacol};2017 (Mar 31)
The objective of this study was to assess the response of anxiety and depression symptoms to methylphenidate (MPH) treatment in patients with Asperger syndrome (AS) combined with attention deficit/hyperactivity disorder (ADHD). A group of 12 patients with AS/ADHD, aged 8-18 years, received 12 weeks of MPH treatment. The severities of ADHD, anxiety, and depression symptoms were assessed by means of the ADHD Rating Scale (ADHD-RS), Screen for Child Anxiety Related Emotional Disorders, and the Children’s Depression Inventory. The severity of ADHD and depression symptoms was reduced significantly (P<0.0003 and P=0.046, respectively). No improvement in total anxiety symptoms was found, but a significant reduction was obtained in the school-related subscale of the Screen for Child Anxiety Related Emotional Disorders (P=0.0054). A positive correlation was found between the reductions in ADHD-RS and Children's Depression Inventory scores (r=0.59, P=0.039). MPH treatment may be safe, tolerable, and effective in alleviating depression and school-related anxiety symptoms in patients with AS and ADHD. Lien vers le texte intégral (Open Access ou abonnement)
4. Griffiths S, Jarrold C, Penton-Voak IS, Woods AT, Skinner AL, Munafo MR. {{Impaired Recognition of Basic Emotions from Facial Expressions in Young People with Autism Spectrum Disorder: Assessing the Importance of Expression Intensity}}. {J Autism Dev Disord};2017 (Mar 31)
It has been proposed that impairments in emotion recognition in ASD are greater for more subtle expressions of emotion. We measured recognition of 6 basic facial expressions at 8 intensity levels in young people (6-16 years) with ASD (N = 63) and controls (N = 64) via an Internet platform. Participants with ASD were less accurate than controls at labelling expressions across intensity levels, although differences at very low levels were not detected due to floor effects. Recognition accuracy did not correlate with parent-reported social functioning in either group. These findings provide further evidence for an impairment in recognition of basic emotion in ASD and do not support the idea that this impairment is limited solely to low intensity expressions.
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5. Hrdlicka M, Urbanek T, Vacova M, Beranova S, Dudova I. {{Some children with autism have latent social skills that can be tested}}. {Neuropsychiatr Dis Treat};2017;13:827-833.
BACKGROUND: The idea of latent social skills in autism emerged as a possible interpretation of the rapid (but temporary) improvement of autistic subjects in oxytocin studies. We tested a hypothesis that a normal response to Item No 59 « Secure Base » from the third version of the Autism Diagnostic Interview – Revised (ADIR-59) could indicate the presence of latent social skills in autism. METHODS: We examined 110 autistic children (88 boys and 22 girls) with a mean age of 6.0+/-2.5 years (range: 2.2-14.8 years) using the Autism Diagnostic Observation Schedule (ADOS) – Generic. A diagnosis of mental retardation was established in 68 autistic children (62%). RESULTS: The difference in the ADOS social domain between children aged Lien vers le texte intégral (Open Access ou abonnement)
6. Kourtian S, Soueid J, Makhoul NJ, Guisso DR, Chahrour M, Boustany RN. {{Candidate Genes for Inherited Autism Susceptibility in the Lebanese Population}}. {Sci Rep};2017 (Mar 30);7:45336.
Autism spectrum disorder (ASD) is characterized by ritualistic-repetitive behaviors and impaired verbal/non-verbal communication. Many ASD susceptibility genes implicated in neuronal pathways/brain development have been identified. The Lebanese population is ideal for uncovering recessive genes because of shared ancestry and a high rate of consanguineous marriages. Aims here are to analyze for published ASD genes and uncover novel inherited ASD susceptibility genes specific to the Lebanese. We recruited 36 ASD families (ASD: 37, unaffected parents: 36, unaffected siblings: 33) and 100 unaffected Lebanese controls. Cytogenetics 2.7 M Microarrays/CytoScan HD arrays allowed mapping of homozygous regions of the genome. The CNTNAP2 gene was screened by Sanger sequencing. Homozygosity mapping uncovered DPP4, TRHR, and MLF1 as novel candidate susceptibility genes for ASD in the Lebanese. Sequencing of hot spot exons in CNTNAP2 led to discovery of a 5 bp insertion in 23/37 ASD patients. This mutation was present in unaffected family members and unaffected Lebanese controls. Although a slight increase in number was observed in ASD patients and family members compared to controls, there were no significant differences in allele frequencies between affecteds and controls (C/TTCTG: gamma2 value = 0.014; p = 0.904). The CNTNAP2 polymorphism identified in this population, hence, is not linked to the ASD phenotype.
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7. Singer AB, Burstyn I, Thygesen M, Mortensen PB, Fallin MD, Schendel DE. {{Parental exposures to occupational asthmagens and risk of autism spectrum disorder in a Danish population-based case-control study}}. {Environ Health};2017 (Mar 31);16(1):31.
BACKGROUND: Environmental exposures and immune conditions during pregnancy could influence development of autism spectrum disorder (ASD) in offspring. However, few studies have examined immune-triggering exposures in relation to ASD. We evaluated the association between parental workplace exposures to risk factors for asthma (« asthmagens ») and ASD. METHODS: We conducted a population-based case-control study in the Danish population using register linkage. Our study population consisted of 11,869 ASD cases and 48,046 controls born from 1993 through 2007. Cases were identified by ICD-10 codes in the Danish Psychiatric Central Register. ASD cases and controls were linked to parental Danish International Standard Classification of Occupations (DISCO-88) job codes. Parental occupational asthmagen exposure was estimated by linking DISCO-88 codes to an asthma-specific job-exposure matrix. RESULTS: Our maternal analyses included 6706 case mothers and 29,359 control mothers employed during the pregnancy period. We found a weak inverse association between ASD and any maternal occupational asthmagen exposure, adjusting for sociodemographic covariates (adjusted OR: 0.92, 95% CI: 0.86-0.99). In adjusted analyses, including 7647 cases and 31,947 controls with employed fathers, paternal occupational asthmagen exposure was not associated with ASD (adjusted OR: 0.98, 95% CI: 0.92-1.05). CONCLUSIONS: We found a weak inverse association between maternal occupational asthmagen exposure and ASD, and a null association between paternal occupational exposure and ASD. We suggest that unmeasured confounding negatively biased the estimate, but that this unmeasured confounding is likely not strong enough to bring the effect above the null. Overall, our results were consistent with no positive association between parental asthmagen exposure and ASD in the children.
